Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in the young with a prevalence of 1 in 500. HCM is an autosomal dominant trait where first-degree-relatives of affected individuals have a 50% risk of developing disease. A vast array of mutations in genes encoding proteins of the sarcomere, and Z-disc has been reported. However, the allele frequencies of mutations in these sarcomeric genes have been shown to differ among distinct ethnic groups contributing to different linkage disequilibrium patterns in associated regions. This indicates the need for development of population-specific cardiomyopathy mutation panels that should be restricted to the genes known to be associated with HCM among Indian patients.

Hence we plan to identify the association of genetic mutations with the phenotypic expression of hypertrophic cardiomyopathy (HCM) in order to recommend a population specific mutation panel to assist diagnostic and/or predictive testing for HCM among Indian patients.

The study design has three phases.

• The objective of the first phase of the study is to screen for genetic mutations within the exons of 14 HCM candidate genes among hypertrophic cardiomyopathy patients being followed up at the SCTIMST, using Targeted Next-generation exome sequencing.
• The objective of the second phase of the study is to screen for genetic mutations in the first-degree relatives of HCM patients who were identified to be carriers of diseasecausing mutations from the first phase.
• The objective of the third phase of the study is to check the pathogenicity of the identified mutations in a non-HCM population.